Association Analysis between Genotype and Phenotype of α,β-Thalassaemia Carriers in Huizhou Area of Guangdong Province.
10.19746/j.cnki.issn.1009-2137.2023.04.031
- Author:
Di-Na CHEN
1
;
Zhi-Yang GUAN
1
;
Ze-Yan ZHONG
1
;
Hai-Lin HE
1
;
Guo-Xing ZHONG
1
;
Zhi-Yong WU
1
;
Jian-Hong CHEN
2
Author Information
1. Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou 516007, Guangdong Province, China.
2. Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou 516007, Guangdong Province, China.E-mail: 1296275774@qq.com.
- Publication Type:Journal Article
- Keywords:
Huizhou area;
genotype;
hematological characteristics;
α,β-thalassaemia
- MeSH:
Pregnancy;
Female;
Humans;
beta-Thalassemia/genetics*;
Genotype;
Heterozygote;
Phenotype;
alpha-Thalassemia/genetics*;
China/epidemiology*;
Mutation
- From:
Journal of Experimental Hematology
2023;31(4):1133-1137
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the prevalence, genotype distribution and hematological characteristics of α,β-thalassaemia carriers in Huizhou area of Guangdong Province.
METHODS:10 809 carriers of simple β-thalassaemia and 1 757 carriers of α,β-thalassaemia were enrolled as our study cohort. The hematological parameters were detected by automated blood cell counters and automatic capillary electrophoresis. Suspension array technology, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot blot were used for the genotyping of thalassaemia carriers.
RESULTS:The prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province was 1.99%. A total of 62 genotypes were detected, and the most prevalent genotype was --SEA/ αα, βCD41-42/ βN (19.29%), the next was --SEA/ αα, βIVS-II-654/ βN (16.73%). Significant differences in mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were found between different genotype groups for simple β-thalassaemia and α,β-thalassaemia. Violin plots showed that carriers with co-inheritance of β-thalassaemia and mild α-thalassaemia expressed the lightest anemia, and carriers with co-inheritance of β-thalassaemia and hemoglobin H (Hb H) disease expressed the most severe anemia.
CONCLUSION:There is a high prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province. Because of the lack of specific hematological makers for diagnosis of α,β-thalassaemia, it is necessary to distinguish it from simple β-thalassaemia by genotyping of α- and β-thalassaemia in order to correctly guide genetic counseling and prenatal disgnosis.
